Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causative in approximately 85% of cases. In recent years, recessive variants in gene...

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Detalles Bibliográficos
Autores principales: Andersson, Kristofer, Malmgren, Barbro, Åström, Eva, Nordgren, Ann, Taylan, Fulya, Dahllöf, Göran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7110904/
https://www.ncbi.nlm.nih.gov/pubmed/32234057
http://dx.doi.org/10.1186/s13023-020-01361-4

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